Canonical Allele Identifier: CA120966582

Gene: POLK

Linked Data

• dbSNP Id: rs5744717
• gnomAD v2: 5-74893944-G-C
• gnomAD v3: 5-75598119-G-C
• gnomAD v4: 5-75598119-G-C
• MyVariant Identifiers: chr5:g.74893944G>C (hg19) ; chr5:g.75598119G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75598119G>C , CM000667.2:g.75598119G>C	GRCh38
NC_000005.9:g.74893944G>C , CM000667.1:g.74893944G>C	GRCh37
NC_000005.8:g.74929700G>C	NCBI36
NG_051590.1:g.91370G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.*101G>C MANE Select	ENSP00000241436.4:n.*101G>C
ENST00000241436.8:c.*101G>C	ENSP00000241436.4:n.*101G>C
ENST00000506928.5:n.2837G>C
ENST00000510815.6:c.*1237G>C	ENSP00000422094.2:n.*1237G>C
ENST00000514141.5:c.*1333G>C	ENSP00000423526.1:n.*1333G>C
NM_016218.2:c.*101G>C	NP_057302.1:n.*101G>C
XM_005248534.3:c.*101G>C	XP_005248591.1:n.*101G>C
XM_006714652.2:c.*101G>C	XP_006714715.1:n.*101G>C
XM_011543463.1:c.*101G>C	XP_011541765.1:n.*101G>C
XM_011543464.1:c.*101G>C	XP_011541766.1:n.*101G>C
XM_011543465.1:c.*101G>C	XP_011541767.1:n.*101G>C
XM_011543466.1:c.*101G>C	XP_011541768.1:n.*101G>C
XM_011543467.1:c.*101G>C	XP_011541769.1:n.*101G>C
XR_948273.1:n.2906G>C
NM_001345921.1:c.*101G>C	NP_001332850.1:n.*101G>C
NM_001345922.1:c.*101G>C	NP_001332851.1:n.*101G>C
NM_016218.3:c.*101G>C	NP_057302.1:n.*101G>C
NR_144315.1:n.2720G>C
XM_005248534.5:c.*101G>C	XP_005248591.1:n.*101G>C
XM_006714652.4:c.*101G>C	XP_006714715.1:n.*101G>C
XM_011543463.3:c.*101G>C	XP_011541765.1:n.*101G>C
XM_011543464.3:c.*101G>C	XP_011541766.1:n.*101G>C
XM_011543467.3:c.*101G>C	XP_011541769.1:n.*101G>C
XM_017009559.2:c.*101G>C	XP_016865048.1:n.*101G>C
XM_017009560.2:c.*101G>C	XP_016865049.1:n.*101G>C
XM_017009561.2:c.*101G>C	XP_016865050.1:n.*101G>C
XM_017009563.2:c.*101G>C	XP_016865052.1:n.*101G>C
XR_001742105.2:n.3204G>C
XR_001742107.2:n.3288G>C
XR_001742108.2:n.2822G>C
XR_241784.3:n.3246G>C
XR_948273.3:n.2906G>C
NM_001345921.2:c.*101G>C	NP_001332850.1:n.*101G>C
NM_001345922.2:c.*101G>C	NP_001332851.1:n.*101G>C
NM_001387110.2:c.*101G>C	NP_001374039.1:n.*101G>C
NM_001387111.2:c.*101G>C	NP_001374040.1:n.*101G>C
NM_001387113.2:c.*101G>C	NP_001374042.1:n.*101G>C
NM_016218.5:c.*101G>C	NP_057302.1:n.*101G>C
NR_144315.2:n.2579G>C
NR_170559.2:n.2568G>C
NR_170560.2:n.2800G>C
NM_001345921.3:c.*101G>C	NP_001332850.1:n.*101G>C
NM_001345922.3:c.*101G>C	NP_001332851.1:n.*101G>C
NM_001387110.3:c.*101G>C	NP_001374039.1:n.*101G>C
NM_001387111.3:c.*101G>C	NP_001374040.1:n.*101G>C
NM_001387113.3:c.*101G>C	NP_001374042.1:n.*101G>C
NM_001395893.1:c.*101G>C	NP_001382822.1:n.*101G>C
NM_001395894.1:c.*101G>C	NP_001382823.1:n.*101G>C
NM_001395897.1:c.*101G>C	NP_001382826.1:n.*101G>C
NM_001395899.1:c.*101G>C	NP_001382828.1:n.*101G>C
NM_001395900.1:c.*101G>C	NP_001382829.1:n.*101G>C
NM_001395901.1:c.*101G>C	NP_001382830.1:n.*101G>C
NM_001395902.1:c.*101G>C	NP_001382831.1:n.*101G>C
NM_016218.6:c.*101G>C MANE Select	NP_057302.1:n.*101G>C
NR_144315.3:n.2579G>C
NR_170559.3:n.2568G>C
NR_170560.3:n.2800G>C